Exome Sequencing in an ADSHE Family: VUS Identification and Limits
Abstract
:1. Introduction
2. Materials and Methods
2.1. Sample Composition
2.2. Whole Exome Sequencing and Data Processing
2.3. Variant Confirmation and Familial Segregation Analysis
2.4. Computational Analysis of MOXD1 and Mutant Structural Features
3. Results
3.1. Variant Filtration and Prioritization
3.2. Modeling
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Chr | Position (GRCh37) | Ref | Alt | Gene ID | Effect | Feature_ID:HGVS.c:HGVS.p | CADD PHRED Score |
---|---|---|---|---|---|---|---|
Chr6 | 132649571 | A | C | MOXD1 | Nonsynonymous SNV | MOXD1:NM_015529:exon5: c.T826G:p.Trp276Gly | 29.9 |
Chr11 | 2290998 | A | T | ASCL2 | Nonsynonymous SNV | ASCL2:NM_005170:exon1: c.T565A:p.Trp189Arg | 33.0 |
Chr14 | 64655368 | A | C | SYNE2 | Nonsynonymous SNV | SYNE2:NM_015180:exon98: c.A17813C:p.Asn5938Thr | 25.5 |
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Villa, C.; Arrigoni, F.; Rivellini, E.; Lavitrano, M.; De Gioia, L.; Ferini-Strambi, L.; Combi, R. Exome Sequencing in an ADSHE Family: VUS Identification and Limits. Int. J. Environ. Res. Public Health 2022, 19, 12548. https://doi.org/10.3390/ijerph191912548
Villa C, Arrigoni F, Rivellini E, Lavitrano M, De Gioia L, Ferini-Strambi L, Combi R. Exome Sequencing in an ADSHE Family: VUS Identification and Limits. International Journal of Environmental Research and Public Health. 2022; 19(19):12548. https://doi.org/10.3390/ijerph191912548
Chicago/Turabian StyleVilla, Chiara, Federica Arrigoni, Eleonora Rivellini, Marialuisa Lavitrano, Luca De Gioia, Luigi Ferini-Strambi, and Romina Combi. 2022. "Exome Sequencing in an ADSHE Family: VUS Identification and Limits" International Journal of Environmental Research and Public Health 19, no. 19: 12548. https://doi.org/10.3390/ijerph191912548